sphingomyelin (d18:1/14:0, d16:1/16:0)* to sphingomyelin (d18:1/20:0, d16:1/22:0)*

Numerator Metabolite

Structure of sphingomyelin (d18:1/14:0, d16:1/16:0)*
Metabolite Accession: GCST90199945
Name: sphingomyelin (d18:1/14:0, d16:1/16:0)*
Hmdb Id: HMDB0012097
Super Pathway: NA
Sub Pathway: NA
Inchikey: KYICBZWZQPCUMO

Denominator Metabolite

Structure of sphingomyelin (d18:1/20:0, d16:1/22:0)*
Metabolite Accession: GCST90200001
Name: sphingomyelin (d18:1/20:0, d16:1/22:0)*
Hmdb Id: HMDB0012102
Super Pathway: NA
Sub Pathway: NA
Inchikey: AADLTHQNYQJHQV

Associated Genomic Regions

Region: rs1871194

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
0.243
Position:
8283819
SE (Ratio):
0.014
Effect Allele:
C
Z-score (Ratio):
17.611
Reference Allele:
A
-log10(P):
-158.176
MAF:
0.461
Beta (Num):
0.042
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.201
SE (Den):
0.016
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

Region: rs7412

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
0.233
Position:
45412079
SE (Ratio):
0.024
Effect Allele:
T
Z-score (Ratio):
9.847
Reference Allele:
C
-log10(P):
-51.007
MAF:
0.084
Beta (Num):
0.041
Novel Locus:
No
SE (Num):
0.027
Beta (Den):
-0.192
SE (Den):
0.027
No CNV overlap
rQTL cluster:
8
Reaction Distance:
NA
Closest Genes:
APOE TOMM40 APOC1 PVRL2 APOC4

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis14[1], 15[2], 16[3], 17[4]

Denominator Metabolite Explanation:

Sphingolipid biosynthesis14[1], 18[2], 15[3], 16[4], 17[5]

Ratio Explanation:

The ratio reflects the relative activity of ceramide synthases and subsequent desaturases, where APOE and APOC1 likely influence the lipid substrate pool for sphingomyelin synthesis.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in the APOE/APOC1 locus influences circulating lipid levels. This altered lipid environment, particularly the sphingomyelin profile, is associated with an increased risk of cardiovascular and metabolic diseases like myocardial infarction, hypercholesterolemia, and obesity.

Phenotype Driver:

Gene-centric:APOE

Downloads

Download the full rQTL summary statistics file for this metabolite ratio. Data contains the loci listed here. For each SNP (chromosome, effect_allele, reference_allele, pos_name, position) these columns contain the summary statistics of the ratio (beta, pgain, pval, se, z), the numerator metabolite (beta_1, pval_1, n_iids_1, effect_allele_frequency_1, se_1, z_1) and the denominator metabolite (beta_2, pval_2, n_iids_2, effect_allele_frequency_2, se_2, z_2)

Download rQTL Data